Mitochondrial Biomarkers in Huntington's Disease | NCT04515550

Studies
Mitochondrial Biomarkers in Huntington's Disease

NCT04515550

Sponsor

University Hospitals Cleveland Medical Center

Status

Completed

Last Update Posted

Apr 12, 2022Actual

Enrollment

27Actual

Phase

Not provided

Conditions

Huntington Disease

Interventions

lumbar puncture

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
1R21NS107897-01A1	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Apr 2022

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 4, 2019Actual

Primary Completion Date

Feb 28, 2022Actual

Completion Date

Feb 28, 2022Actual

First Submitted Date

Jul 31, 2020

First Submission Date that Met QC Criteria

Aug 14, 2020

First Posted Date

Aug 17, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 9, 2022

Last Update Posted Date

Apr 12, 2022Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Steven Gunzler, MD, Assistant Professor, Neurology, University Hospitals Cleveland Medical CenterPrincipal Investigator

Lead Sponsor

University Hospitals Cleveland Medical CenterOTHER

Collaborators

Name	Class
Case Western Reserve University	OTHER
National Institute of Neurological Disorders and Stroke (NINDS)	NIH
The Cleveland Clinic	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

The objective of this study is to discover a panel of mitochondrial metabolomics biomarkers for Huntington's disease.

Detailed Description

This investigator-initiated, single-site longitudinal study seeks to assess the utility of mitochondrial metabolomics -- panels of small molecules that affect mitochondrial function -- to diagnose pre-symptomatic, pre-manifest, and symptomatic Huntington's disease and serve as biomarkers for HD severity and progression. It also seeks to demonstrate that this novel biomarker in the blood has comparable value to the same analysis in spinal fluid. This research study involves 3-4 visits over 18 months. Forty volunteers with HD and 25 volunteers without HD will be included. Volunteers who have HD will have a physical examination and blood draw at each study visit. Some participants will also volunteer for optional lumbar puncture.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

18 Months

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

27Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Huntington's disease (HD)		people with HD	Diagnostic Test: lumbar puncture
Controls without HD		people without HD	Diagnostic Test: lumbar puncture

Interventions

Name	Type	Description	Arm Group Labels	Other Names
lumbar puncture	Diagnostic Test	Some participants will have an optional lumbar puncture	Controls without HD Huntington's disease (HD)

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections	This is a questionnaire and neurological examination. Lower values are better than higher values.	At baseline, 9 months, and 18 months

Secondary Outcomes

Measure	Description	Time Frame
Change in Montreal Cognitive Assessment (MoCA)	Zero to 30 point cognitive scale. Higher values are better than lower values.	At baseline, 9 months, and 18 months

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Age 20 to 85
Montreal Cognitive Assessment score >10
HD subjects had onset of HD symptoms after the age of 20
HD subjects with Diagnostic Confidence Level (DCL) of 0-3 (pre-symptomatic or pre-manifest) must have at least 40 CAG repeats on one HTT allele
HD subjects with Diagnostic Confidence Level (DCL) of 4 (manifest) must have at least 36 CAG repeats on one HTT allele
Controls are asymptomatic without family history of HD or have <36 CAG repeats on both HTT alleles with family history of HD

Exclusion Criteria:

HD subjects who did not already have genetic testing are excluded from this study
Pregnancy or plans to become pregnant during the study
Investigational drugs within 3 months of screening visit
Alcohol or illicit drug abuse or dependence
Other genetic or neurological disorders
Other medical or psychiatric illness that in the investigator's judgement will prevent ability to tolerate or undergo study procedures
For those volunteering for lumbar puncture (LP), bleeding disorders or excessive bleeding, anticoagulation, aspirin if unable to safely stop taking it at least 7 days prior to LP, other antiplatelet medications, inability to tolerate LP, allergy to local anesthetic or chlorhexidine, major lumbar spine deformity, low platelets or abnormal coagulation factors PT/APTT

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

20 Years

Maximum Age

85 Years

Standard Ages

AdultOlder Adult

Study Population

The study population consists of people with HD and controls without HD

Sampling Method

Non-Probability Sample

Name	Affiliation	Role
Xin Qi, PhD	Case Western Reserve University	Principal Investigator

Facility	Status	City	State	ZIP	Country	Contacts
University Hospitals Cleveland Medical Center		Cleveland	Ohio	44106	United States

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

ID	Term
D001480	Basal Ganglia Diseases
D001927	Brain Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases

ID	Term
D001706	Biopsy
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures